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GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 1-47310284-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=1&pos=47310284&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "1",
"pos": 47310284,
"ref": "C",
"alt": "T",
"effect": "missense_variant",
"transcript": "NM_001048166.1",
"consequences": [
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STIL",
"gene_hgnc_id": 10879,
"hgvs_c": "c.36G>A",
"hgvs_p": "p.Met12Ile",
"transcript": "NM_001048166.1",
"protein_id": "NP_001041631.1",
"transcript_support_level": null,
"aa_start": 12,
"aa_end": null,
"aa_length": 1288,
"cds_start": 36,
"cds_end": null,
"cds_length": 3867,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000371877.8",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001048166.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STIL",
"gene_hgnc_id": 10879,
"hgvs_c": "c.36G>A",
"hgvs_p": "p.Met12Ile",
"transcript": "ENST00000371877.8",
"protein_id": "ENSP00000360944.3",
"transcript_support_level": 1,
"aa_start": 12,
"aa_end": null,
"aa_length": 1288,
"cds_start": 36,
"cds_end": null,
"cds_length": 3867,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001048166.1",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000371877.8"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STIL",
"gene_hgnc_id": 10879,
"hgvs_c": "c.36G>A",
"hgvs_p": "p.Met12Ile",
"transcript": "ENST00000360380.7",
"protein_id": "ENSP00000353544.3",
"transcript_support_level": 1,
"aa_start": 12,
"aa_end": null,
"aa_length": 1287,
"cds_start": 36,
"cds_end": null,
"cds_length": 3864,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000360380.7"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STIL",
"gene_hgnc_id": 10879,
"hgvs_c": "c.36G>A",
"hgvs_p": "p.Met12Ile",
"transcript": "ENST00000396221.6",
"protein_id": "ENSP00000379523.2",
"transcript_support_level": 1,
"aa_start": 12,
"aa_end": null,
"aa_length": 1270,
"cds_start": 36,
"cds_end": null,
"cds_length": 3813,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000396221.6"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STIL",
"gene_hgnc_id": 10879,
"hgvs_c": "c.36G>A",
"hgvs_p": "p.Met12Ile",
"transcript": "ENST00000447475.7",
"protein_id": "ENSP00000411664.3",
"transcript_support_level": 1,
"aa_start": 12,
"aa_end": null,
"aa_length": 1223,
"cds_start": 36,
"cds_end": null,
"cds_length": 3672,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000447475.7"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STIL",
"gene_hgnc_id": 10879,
"hgvs_c": "c.36G>A",
"hgvs_p": "p.Met12Ile",
"transcript": "ENST00000936921.1",
"protein_id": "ENSP00000606980.1",
"transcript_support_level": null,
"aa_start": 12,
"aa_end": null,
"aa_length": 1288,
"cds_start": 36,
"cds_end": null,
"cds_length": 3867,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936921.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STIL",
"gene_hgnc_id": 10879,
"hgvs_c": "c.36G>A",
"hgvs_p": "p.Met12Ile",
"transcript": "ENST00000936923.1",
"protein_id": "ENSP00000606982.1",
"transcript_support_level": null,
"aa_start": 12,
"aa_end": null,
"aa_length": 1288,
"cds_start": 36,
"cds_end": null,
"cds_length": 3867,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936923.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STIL",
"gene_hgnc_id": 10879,
"hgvs_c": "c.36G>A",
"hgvs_p": "p.Met12Ile",
"transcript": "NM_001282936.1",
"protein_id": "NP_001269865.1",
"transcript_support_level": null,
"aa_start": 12,
"aa_end": null,
"aa_length": 1287,
"cds_start": 36,
"cds_end": null,
"cds_length": 3864,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001282936.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STIL",
"gene_hgnc_id": 10879,
"hgvs_c": "c.36G>A",
"hgvs_p": "p.Met12Ile",
"transcript": "NM_003035.2",
"protein_id": "NP_003026.2",
"transcript_support_level": null,
"aa_start": 12,
"aa_end": null,
"aa_length": 1287,
"cds_start": 36,
"cds_end": null,
"cds_length": 3864,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_003035.2"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STIL",
"gene_hgnc_id": 10879,
"hgvs_c": "c.36G>A",
"hgvs_p": "p.Met12Ile",
"transcript": "ENST00000893434.1",
"protein_id": "ENSP00000563493.1",
"transcript_support_level": null,
"aa_start": 12,
"aa_end": null,
"aa_length": 1287,
"cds_start": 36,
"cds_end": null,
"cds_length": 3864,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893434.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STIL",
"gene_hgnc_id": 10879,
"hgvs_c": "c.36G>A",
"hgvs_p": "p.Met12Ile",
"transcript": "ENST00000936918.1",
"protein_id": "ENSP00000606977.1",
"transcript_support_level": null,
"aa_start": 12,
"aa_end": null,
"aa_length": 1287,
"cds_start": 36,
"cds_end": null,
"cds_length": 3864,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936918.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STIL",
"gene_hgnc_id": 10879,
"hgvs_c": "c.36G>A",
"hgvs_p": "p.Met12Ile",
"transcript": "ENST00000936919.1",
"protein_id": "ENSP00000606978.1",
"transcript_support_level": null,
"aa_start": 12,
"aa_end": null,
"aa_length": 1287,
"cds_start": 36,
"cds_end": null,
"cds_length": 3864,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936919.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STIL",
"gene_hgnc_id": 10879,
"hgvs_c": "c.36G>A",
"hgvs_p": "p.Met12Ile",
"transcript": "ENST00000936924.1",
"protein_id": "ENSP00000606983.1",
"transcript_support_level": null,
"aa_start": 12,
"aa_end": null,
"aa_length": 1287,
"cds_start": 36,
"cds_end": null,
"cds_length": 3864,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936924.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STIL",
"gene_hgnc_id": 10879,
"hgvs_c": "c.36G>A",
"hgvs_p": "p.Met12Ile",
"transcript": "ENST00000936925.1",
"protein_id": "ENSP00000606984.1",
"transcript_support_level": null,
"aa_start": 12,
"aa_end": null,
"aa_length": 1287,
"cds_start": 36,
"cds_end": null,
"cds_length": 3864,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936925.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STIL",
"gene_hgnc_id": 10879,
"hgvs_c": "c.36G>A",
"hgvs_p": "p.Met12Ile",
"transcript": "ENST00000948671.1",
"protein_id": "ENSP00000618730.1",
"transcript_support_level": null,
"aa_start": 12,
"aa_end": null,
"aa_length": 1287,
"cds_start": 36,
"cds_end": null,
"cds_length": 3864,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000948671.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STIL",
"gene_hgnc_id": 10879,
"hgvs_c": "c.36G>A",
"hgvs_p": "p.Met12Ile",
"transcript": "NM_001282937.1",
"protein_id": "NP_001269866.1",
"transcript_support_level": null,
"aa_start": 12,
"aa_end": null,
"aa_length": 1270,
"cds_start": 36,
"cds_end": null,
"cds_length": 3813,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001282937.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STIL",
"gene_hgnc_id": 10879,
"hgvs_c": "c.36G>A",
"hgvs_p": "p.Met12Ile",
"transcript": "ENST00000893433.1",
"protein_id": "ENSP00000563492.1",
"transcript_support_level": null,
"aa_start": 12,
"aa_end": null,
"aa_length": 1270,
"cds_start": 36,
"cds_end": null,
"cds_length": 3813,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000893433.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STIL",
"gene_hgnc_id": 10879,
"hgvs_c": "c.36G>A",
"hgvs_p": "p.Met12Ile",
"transcript": "ENST00000936920.1",
"protein_id": "ENSP00000606979.1",
"transcript_support_level": null,
"aa_start": 12,
"aa_end": null,
"aa_length": 1270,
"cds_start": 36,
"cds_end": null,
"cds_length": 3813,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936920.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STIL",
"gene_hgnc_id": 10879,
"hgvs_c": "c.36G>A",
"hgvs_p": "p.Met12Ile",
"transcript": "ENST00000936922.1",
"protein_id": "ENSP00000606981.1",
"transcript_support_level": null,
"aa_start": 12,
"aa_end": null,
"aa_length": 1270,
"cds_start": 36,
"cds_end": null,
"cds_length": 3813,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936922.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
"exon_rank_end": null,
"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STIL",
"gene_hgnc_id": 10879,
"hgvs_c": "c.36G>A",
"hgvs_p": "p.Met12Ile",
"transcript": "ENST00000936926.1",
"protein_id": "ENSP00000606985.1",
"transcript_support_level": null,
"aa_start": 12,
"aa_end": null,
"aa_length": 1270,
"cds_start": 36,
"cds_end": null,
"cds_length": 3813,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000936926.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STIL",
"gene_hgnc_id": 10879,
"hgvs_c": "c.36G>A",
"hgvs_p": "p.Met12Ile",
"transcript": "NM_001282938.1",
"protein_id": "NP_001269867.1",
"transcript_support_level": null,
"aa_start": 12,
"aa_end": null,
"aa_length": 1241,
"cds_start": 36,
"cds_end": null,
"cds_length": 3726,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001282938.1"
},
{
"aa_ref": "M",
"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STIL",
"gene_hgnc_id": 10879,
"hgvs_c": "c.36G>A",
"hgvs_p": "p.Met12Ile",
"transcript": "NM_001377417.1",
"protein_id": "NP_001364346.1",
"transcript_support_level": null,
"aa_start": 12,
"aa_end": null,
"aa_length": 1241,
"cds_start": 36,
"cds_end": null,
"cds_length": 3726,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
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"aa_alt": "I",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
"exon_rank_end": null,
"exon_count": 18,
"intron_rank": null,
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"gene_symbol": "STIL",
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"hgvs_p": "p.Met12Ile",
"transcript": "XM_047428433.1",
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"aa_start": 12,
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"aa_length": 915,
"cds_start": 36,
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"cds_length": 2748,
"cdna_start": null,
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"cdna_length": null,
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"mane_plus": null,
"biotype": "protein_coding",
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},
{
"aa_ref": "M",
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"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 4,
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"exon_count": 19,
"intron_rank": null,
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"gene_symbol": "STIL",
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"hgvs_p": "p.Met12Ile",
"transcript": "XM_047428438.1",
"protein_id": "XP_047284394.1",
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"aa_start": 12,
"aa_end": null,
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"cds_start": 36,
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"cds_length": 2748,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047428438.1"
},
{
"aa_ref": "M",
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"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
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"exon_count": 17,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STIL",
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"hgvs_c": "c.36G>A",
"hgvs_p": "p.Met12Ile",
"transcript": "XM_047428440.1",
"protein_id": "XP_047284396.1",
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"aa_end": null,
"aa_length": 898,
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"cds_length": 2697,
"cdna_start": null,
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"biotype": "protein_coding",
"feature": "XM_047428440.1"
},
{
"aa_ref": "M",
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"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 3,
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"exon_count": 18,
"intron_rank": null,
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"gene_symbol": "STIL",
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"hgvs_c": "c.36G>A",
"hgvs_p": "p.Met12Ile",
"transcript": "XM_047428444.1",
"protein_id": "XP_047284400.1",
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"aa_length": 898,
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"cdna_start": null,
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"cdna_length": null,
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"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_047428444.1"
},
{
"aa_ref": "M",
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"protein_coding": true,
"strand": false,
"consequences": [
"missense_variant"
],
"exon_rank": 2,
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"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "STIL",
"gene_hgnc_id": 10879,
"hgvs_c": "c.36G>A",
"hgvs_p": "p.Met12Ile",
"transcript": "XM_017002127.1",
"protein_id": "XP_016857616.1",
"transcript_support_level": null,
"aa_start": 12,
"aa_end": null,
"aa_length": 874,
"cds_start": 36,
"cds_end": null,
"cds_length": 2625,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_017002127.1"
}
],
"gene_symbol": "STIL",
"gene_hgnc_id": 10879,
"dbsnp": "rs587784451",
"frequency_reference_population": 0.000008060396,
"hom_count_reference_population": 0,
"allele_count_reference_population": 13,
"gnomad_exomes_af": 0.00000821522,
"gnomad_genomes_af": 0.00000657376,
"gnomad_exomes_ac": 12,
"gnomad_genomes_ac": 1,
"gnomad_exomes_homalt": 0,
"gnomad_genomes_homalt": 0,
"gnomad_mito_homoplasmic": null,
"gnomad_mito_heteroplasmic": null,
"computational_score_selected": 0.06938999891281128,
"computational_prediction_selected": "Benign",
"computational_source_selected": "MetaRNN",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
"revel_score": 0.038,
"revel_prediction": "Benign",
"alphamissense_score": 0.2021,
"alphamissense_prediction": null,
"bayesdelnoaf_score": -0.53,
"bayesdelnoaf_prediction": "Benign",
"phylop100way_score": 0.058,
"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"spliceai_max_prediction": "Benign",
"dbscsnv_ada_score": null,
"dbscsnv_ada_prediction": null,
"apogee2_score": null,
"apogee2_prediction": null,
"mitotip_score": null,
"mitotip_prediction": null,
"acmg_score": 0,
"acmg_classification": "Uncertain_significance",
"acmg_criteria": "PM2,BP4_Moderate",
"acmg_by_gene": [
{
"score": 0,
"benign_score": 2,
"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "NM_001048166.1",
"gene_symbol": "STIL",
"hgnc_id": 10879,
"effects": [
"missense_variant"
],
"inheritance_mode": "AR",
"hgvs_c": "c.36G>A",
"hgvs_p": "p.Met12Ile"
}
],
"clinvar_disease": " autosomal recessive, primary,Inborn genetic diseases,Microcephaly 7,not provided",
"clinvar_classification": "Uncertain significance",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "US:4",
"phenotype_combined": "Microcephaly 7, primary, autosomal recessive|not provided|Inborn genetic diseases",
"pathogenicity_classification_combined": "Uncertain significance",
"custom_annotations": null
}
],
"message": null
}